Information in simple English

What is Patau syndrome?

Patau syndrome is a chromosomal anomaly, caused by having an additional copy of chromosome 13 in few or all body's cells.


What are the signs and symptoms of Patau syndrome?

Common anomalies included:

  • Nervous system
    • General learning disability and motor disorder
    • Microcephaly (having smaller-than-normal head)
    • Meningomyelocele (a spinal defect)
  • Musculoskeletal 
    • Polydactyly (greater fingers and/or toes)
    • Proboscis (tube-like structure with blind ends that is usually found in the middle of the face)
    • Congenital reason digits (trigger thumb)
    • Low-set ears
    • Cleft palate (opening of nose)
  • Urogenital
    • Abnormal genitalia
    • Kidney defects